tailieunhanh - báo cáo khoa học: " Genomic risk factors in sudden infant death syndrome"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Genomic risk factors in sudden infant death syndrome | Van Norstrand and Ackerman Genome Medicine 2010 2 86 http content 2 11 86 w Genome Medicine REVIEW L_ Genomic risk factors in sudden infant death syndrome David W Van Norstrand and Michael J Ackerman 1 2 Abstract Sudden infant death syndrome SIDS is a major contributor to postneonatal infant death and is the third leading cause of infant mortality in the USA. While public health efforts have reduced these deaths in recent years the pathogenesis of SIDS remains unclear. Epidemiological data on SIDS-related deaths have suggested genetic factors and many studies have attempted to identify SIDS-associated genes. This has resulted in a large body of literature implicating various genes and their encoded proteins and signaling pathways in numerous cohorts of various sizes and ethnicities. This review has undertaken a systematic evaluation of these studies identifying the pathways that have been implicated in these studies including central nervous system pathways cardiac channelopathies immune dysfunction metabolism energy pathways and nicotine response. This review also explores how new genomic techniques will aid in advancing our knowledge of the genomic risk factors associated with SIDS including SNPs and copy number variation. Last this review explores how the current information can be applied to aid in our assessment of the at risk infant population. Clinical and epidemiological introduction Sudden infant death syndrome SIDS is the leading cause of postneonatal infant death and represents the third leading cause of infant mortality overall in the USA 1 . As defined by Willinger et al. in 1991 2 SIDS is described as the sudden death of an infant under 1 year of age which remains unexplained after a thorough case investigation including performance of a complete autopsy examination of the death scene and review of Correspondence Department of Molecular Pharmacology and Experimental Therapeutics Mayo Clinic Rochester